فصلنامه آزمایشگاه و تشخیص
پیاپی 57 (پاییز 1401)

Sestrins (Sesns), highly conserved stress-inducing metabolic proteins, are known to protect organisms against various harmful stimuli including DNA damage, oxidative stress, endoplasmic reticulum (ER) stress, and hypoxia. Sestrins regulate metabolism mainly through activation of AMP-dependent protein kinase (AMPK) and inhibition of rapamycin complex 1 (mTORC1). Sestrins also play a pivotal role in activating autophagy and inhibiting apoptosis in normal cells, while conversely promoting apoptosis in cancer cells. The function of Sestrins in diseases such as metabolic disorders, neurological diseases, cardiovascular diseases and cancer has been widely investigated in the last decades. However, there are a limited number of reviews that have summarized the functions of Sestrins in the pathophysiological processes of human diseases, especially diseases of the musculoskeletal system. For this reason, to improve the quality of life, it is necessary to measure the plasma levels of Sesn1, Sesn2 and Sesn3 by immunological method. One of the goals of this review is to discuss the biological functions of Sestrins in the pathophysiological process and phenotype of diseases.

The sequencing of human genome leads to obtain an important data on genetic elements having a crucial role in the molecular pathology of genetic disorders. This is the reason of introducing genetic tests to medical field. Genetic testing looks for changes at chromosomes, genes and protein level to detect heritable conditions for clinical purposes. Genetic tests used in routine practice are vary in their accuracy and ability for improving patients outcomes. Regarding this, the ACCE from 2000-2004 is founded by CDC (Center for disease control and prevention) to assess accuracy, quality and usefulness of genetic tests. The ACCE taking its name from the four key components for assessing of genetic tests: Analytic validity which refers to the potential of test for accurate and reliable detection of the genotype of interest. Clinical validity which refers to the ability of genetic tests for finding associated phenotype (genotype-phenotype correlation). Clinical utility denotes the test usefulness in medical practice and clinical endpoints. Ethical, legal and social implication of genetic test explains the concerns such as insurance discrimination and stigmatization which can arise after genetic tests. This article focuses on the explanation of these elements in more detail and determination of their importance in genetic test selection and interpretation.

Thyroid cancer, which is known as the most common type of endocrine cancer, has seen a growing prevalence in the last few years. On the other hand, only a small percentage of them are associated with malignancy and most of them are benign tumors. Therefore, the first step in the proper management of this type of cancer is to distinguish malignant tumors from benign ones, and today, we are trying to use biomarkers for this purpose.
MicroRNAs, which are negative regulators of gene expression at the post-transcriptional level, control various cellular processes by targeting mRNAs. These types of non-coding RNA molecules are specifically expressed in different types of cancer cells, which can be used as prognostic, diagnostic and even therapeutic tools by examining their positive or negative regulation.
In this review article, a summary of information on microRNAs in different types of thyroid cancers has been collected.

Neurofibromatosis is a genetic disorder that causes tumors in nerve tissue. These tumors can grow in any part of the nervous system, including the brain, spinal cord and nerves.
The disease gene can be passed from a parent to a child through marked autosomal dominant inheritance or it can happen due to a spontaneous mutation of a gene. A parent with neurofibromatosis has a 50% chance of passing the genes to each of their children.
Neurofibromatosis is transmitted to the patient's child from either the patient's father or mother or through a spontaneous mutation in the patient.
The NF1 gene is caused by a mutation on chromosome 17. The gene that produces this disease is a protein called neurofibromin, which regulates cell growth. However, mutations in this gene cause NF1 and actually cause the loss of neurofibromin. Such conditions will lead to uncontrollable cell growth and tumor formation in the patient's body.
A similar mutation in a gene on chromosome 22 leads to NF2 (the gene that produces a protein, called merlin, that helps regulate the growth of cells in the body of a newborn). A mutation in this gene causes NF2 and the loss of the merlin protein and will lead to uncontrollable cell growth in a person's body.

Endometriosis is a chronic disease that affects 10-15% of women in their childbearing years and peaks between the ages of 25 and 35. In this disease, the endometrial tissue of the uterus is formed and grows outside of it. Family studies and investigation of twins show that endometriosis is more common in the relatives of the infected individuals. Studies on the role of genetics and the environment in the development of endometriosis show that this disease is caused by an interaction between genetics and environment. Of course, it is very difficult to clarify the genetic components because various genes seem to cause predispose to endometriosis. Various studies have shown the involvement of defects in different gens in the occurrence of endometriosis. In this article, we examine the role of genetics in the development of endometriosis by reviewing of known genetic factors and cellular pathways.

Cancer is characterized by abnormally excessive cell proliferation. Cell proliferation, the process by which a cell grows and divides to produce two daughter cells. Each of these daughter cells divides to produce two new cells, steps that are called cell cycle. Meanwhile, apoptosis is a highly regulated process of cell death, which is involved not only in the development of shape and morphogenesis, but also in controlling the number of cells and getting rid of damaged cells, thus playing an important role in tumor suppression. Apoptosis describes the orchestrated collapse of a cell characterized by membrane blebbing, cell shrinkage, condensation of chromatin, and brief fragmentation of DNA. In this study, Scopus and PubMed scientific databases as well as Google Scholar search engine were used in order to broadly search for scholarly literature.